Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.Y194*
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SLC14A1

NM_015865.7:p.Y194*

Associated Papers

Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.

Srivastava K et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Resolving Genotype-Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing.

Gueuning M et al.

Biomedicines, 2024

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 2014

Nomenclature for red blood cell blood group alleles.

Storry JR

Transfusion, 2013

The mutation spectrum of the JK-null phenotype in the Chinese population.

Guo Z et al.

Transfusion, 2013

Erythroid urea transporter deficiency due to novel JKnull alleles.

Wester ES et al.

Transfusion, 2008

Partial deletion in the JK locus causing a Jk(null) phenotype.

Lucien N et al.

Blood, 2002

Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

Irshaid NM et al.

British Journal of Haematology, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."